Stephanie L. Santoro, M.D.
Clinical geneticist focused on quality improvement and outcomes in genetic syndromes.
She is currently available for lectures and research collaborations.
My Background
I’m a pediatrician-trained clinical geneticist, and have devoted my career to the health of individuals with genetic syndromes. I am focused on Down syndrome, 22q deletion syndrome, trisomy 13 and trisomy 18.
My Education and Academic Positions
B.S., Biology and B.A., Psychology
University of Cincinnati
2001 – 2005
M.D., Doctor of Medicine
University of Cincinnati College of Medicine
2006 – 2009
Pediatrics-Medical Genetics Residency
Cincinnati Children’s Hospital Medical Center
2009 – 2014
Assistant Professor of Pediatrics
Ohio State University College of Medicine
2014 – 2018
Associate Professor of Pediatrics
Harvard Medical School
2024 – Present
Assistant Professor of Pediatrics
Harvard Medical School
2018 – 2024
My Leadership and Committee Work
Board of Directors
Down Syndrome Medical Interest Group (DSMIG-USA)
2020 – Present
Executive Committee
American Academy of Pediatrics, Council on Genetics
2022 – Present
Medical Advisory Board, and Board of Directors
Down Syndrome Association of Central Ohio
2016 – 2018
Board of Directors, and Health Advisory Board of the Medical and Scientific Advisory Committee
Massachusetts Down Syndrome Congress
2018 – Present
I’d love to share my knowledge and expertise about genetic syndromes.
I was the co-director of the Adult Down Syndrome Clinic at the Ohio State University previously and currently am the Director of Quality Improvement Research at the Massachusetts General Hospital Down Syndrome Program. I have specialized training in quality improvement approaches and increasing adherence to guidelines for medical care.
“What does it mean to be healthy?”
I am a K23 awardee with funding to develop a novel instrument to measure health in Down syndrome.
